Canonical Allele Identifier: CA684018357

Gene: MED13L

Linked Data

• dbSNP Id: rs1436093328
• gnomAD v3: 12-115982671-G-A
• gnomAD v4: 12-115982671-G-A
• MyVariant Identifiers: chr12:g.116420476G>A (hg19) ; chr12:g.115982671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982671G>A , CM000674.2:g.115982671G>A	GRCh38
NC_000012.11:g.116420476G>A , CM000674.1:g.116420476G>A	GRCh37
NC_000012.10:g.114904859G>A	NCBI36
NG_023366.1:g.299516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-68C>T MANE Select	ENSP00000281928.3:n.4956-68C>T
ENST00000549786.2:c.4384-68C>T
ENST00000648379.1:n.3324-68C>T
ENST00000648737.1:n.4720-68C>T
ENST00000648825.1:n.1696-68C>T
ENST00000648916.1:n.2967-68C>T
ENST00000649146.1:n.2131C>T
ENST00000649607.1:c.3140-68C>T
ENST00000649775.1:c.1453-76C>T
ENST00000650226.1:c.4956-68C>T	ENSP00000496981.1:n.4956-68C>T
ENST00000281928.7:c.4956-68C>T	ENSP00000281928.3:n.4956-68C>T
ENST00000549786.1:c.320-68C>T
NM_015335.4:c.4956-68C>T	NP_056150.1:n.4956-68C>T
XM_011538080.1:c.4956-68C>T	XP_011536382.1:n.4956-68C>T
XM_011538081.1:c.4953-68C>T	XP_011536383.1:n.4953-68C>T
XM_011538082.1:c.4926-68C>T	XP_011536384.1:n.4926-68C>T
XM_011538080.2:c.4956-68C>T	XP_011536382.1:n.4956-68C>T
XM_011538081.2:c.4953-68C>T	XP_011536383.1:n.4953-68C>T
XM_011538082.2:c.4926-68C>T	XP_011536384.1:n.4926-68C>T
XM_017019090.1:c.4953-68C>T	XP_016874579.1:n.4953-68C>T
NM_015335.5:c.4956-68C>T MANE Select	NP_056150.1:n.4956-68C>T